Deep White Matter Lesions with Persistent Diffusion Restriction on MRI as a Diagnostic Clue: Neuroimaging of a Turkish Family with Hereditary Diffuse Leukoencephalopathy with Spheroids and Literature Review.

摘要: Background: Hereditary diffuse leukoencephalopathy with spheroids (HDLS), first described in 1984 is a rare disorder. Generally, it presents at adulthood dementia, motor impairment, extrapyramidal abnormalities, and epilepsy. Definitive diagnosis made by brain biopsy. Neuroimaging studies have revealed confluent white matter lesions predominantly the frontal lobes, corpus callosum, corticospinal tracts on conventional magnetic resonance imaging. Only few reports showed diffusion restriction cerebral matter; furthermore, rarer emphasized persistent foci of as diagnostic imaging marker. Objective: Herein, we aimed to illustrate biopsy-proven Turkish HDLS pedigree consisting 18 persons 3 generations which contained 4 affected individuals. Materials Methods: Four individuals [two patients (patient III-1 patient III-2) two unaffected II-4 III-5)] were investigated MRI Diffusion-weighted (DWI) using 1.5 Tesla (T) scanner. All four evaluated via neurological examinations Mini-Mental State Examination. Brain biopsy study was performed III-2. Finally, an extensive literature review involving pathology investigations neuroimaging conducted. Results: DWIs deep restriction. Computed tomography punctate mineralization lesions. Biopsy specimens III-2 demonstrated axonal typical for HDLS. Conclusions: Via presentation our review, suggest HDSL first-line differential undiagnosed adult-onset familial leukoencephalopathy, particular, those centrum semiovale associated mineralization. think that persistence should be kept mind crucial sign